Medical Research Council - London Institute of Medical Sciences

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Precision Vision

Gene editing as a potential treatment for blindness-causing inherited retinal degeneration

26 May 2022

Precision Vision

A small smudge on your glasses can mask your whole vision. And a small mutation in your DNA can destroy it entirely. Leber congenital amaurosis (LCA) is the most common cause of inherited retinal degeneration in children, which leads to visual impairment through accelerated decline of eye cells called cone photoreceptors. Researchers have used base editing – a novel technique that targets a single point in our DNA – to directly counter the mutation behind the disease. In mice with LCA, the treatment aimed to both compensate for the missing action of the mutated gene and guard against further damage. The technique increased the functional activity of the gene, boosting visual function and protecting the cells (pictured in a treated mouse, cone cells in green and a protein crucial for healthy activity in pink). If the approach translates to humans, a single lasting treatment for inherited retinal degeneration could be in sight.

Written by Anthony Lewis

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